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rs80357542

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CT) 6 BRCA1 variant considered pathogenic for breast cancer
(CT;CT) 0 common in clinvar


Make rs80357542(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074380
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357542
ebirs80357542
HLIrs80357542
Exacrs80357542
Varsomers80357542
Maprs80357542
PheGenIrs80357542
hapmaprs80357542
1000 genomesrs80357542
hgdprs80357542
ensemblrs80357542
gopubmedrs80357542
geneviewrs80357542
scholarrs80357542
googlers80357542
pharmgkbrs80357542
gwascentralrs80357542
openSNPrs80357542
23andMers80357542
23andMe allrs80357542
SNP Nexus

SNPshotrs80357542
SNPdbers80357542
MSV3drs80357542
GWAS Ctlgrs80357542
Max Magnitude6
rs80357542, also known as 4744delCT, c.4625_4626delCT and p.Ser1542Trpfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357542(;)
Alt rs80357542(;)
Reference rs80357542(CT;CT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41226397_41226398delAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048610.2, RCV000112367.1, RCV000236865.1,